Hyperinsulinism and hyperammonaemia syndrome due to a novel missense mutation in the allosteric domain of the glutamate dehydrogenase 1 gene.
Congenital hyperinsulinism is one of the causes of persistent hypoglycaemia in neonates and infants. We describe a one-month-old boy with a rare form of congenital hyperinsulinism characterised by hypoglycaemia and hyperammonaemia.
Chik
Kar-Ki
KK
Department of Paediatrics and Adolescent Medicine, United Christian Hospital, Hong Kong, China. chikkk@ha.org.hk
Chan
Chun-Wing
CW
Lam
Ching-Wan
CW
Ng
Kwok-Leung
KL
D000495:Allosteric Site / Q000235:genetics*; D005969:Glutamate Dehydrogenase / Q000235:genetics*; D006723:Hong Kong; D006801:Humans; D022124:Hyperammonemia / Q000209:etiology* / Q000235:genetics*; D006943:Hyperglycemia / Q000235:genetics; D006946:Hyperinsulinism / Q000209:etiology* / Q000235:genetics*; D007223:Infant; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*
D005969:Glutamate Dehydrogenase